English
 
Help Privacy Policy Disclaimer
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

Shining a light on CNTNAP2: Complex functions to complex disorders

MPS-Authors
/persons/resource/persons73285

Rodenas-Cuadrado,  Pedro
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

/persons/resource/persons71886

Ho,  Joses
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL;
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK;

/persons/resource/persons37905

Vernes,  Sonja C.
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Neurogenetics of Vocal Communication Group, MPI for Psycholinguistics, Max Planck Society;

External Resource
No external resources are shared
Fulltext (restricted access)
There are currently no full texts shared for your IP range.
Fulltext (public)

Rodenas_Cuadrado_Ho_Vernes_2014.pdf
(Publisher version), 721KB

Supplementary Material (public)
There is no public supplementary material available
Citation

Rodenas-Cuadrado, P., Ho, J., & Vernes, S. C. (2014). Shining a light on CNTNAP2: Complex functions to complex disorders. European Journal of Human Genetics, 22(2), 171-178. doi:10.1038/ejhg.2013.100.


Cite as: https://hdl.handle.net/11858/00-001M-0000-0013-78E9-2
Abstract
The genetic basis of complex neurological disorders involving language are poorly understood, partly due to the multiple additive genetic risk factors that are thought to be responsible. Furthermore, these conditions are often syndromic in that they have a range of endophenotypes that may be associated with the disorder and that may be present in different combinations in patients. However, the emergence of individual genes implicated across multiple disorders has suggested that they might share similar underlying genetic mechanisms. The CNTNAP2 gene is an excellent example of this, as it has recently been implicated in a broad range of phenotypes including autism spectrum disorder (ASD), schizophrenia, intellectual disability, dyslexia and language impairment. This review considers the evidence implicating CNTNAP2 in these conditions, the genetic risk factors and mutations that have been identified in patient and population studies and how these relate to patient phenotypes. The role of CNTNAP2 is examined in the context of larger neurogenetic networks during development and disorder, given what is known regarding the regulation and function of this gene. Understanding the role of CNTNAP2 in diverse neurological disorders will further our understanding of how combinations of individual genetic risk factors can contribute to complex conditions